Whole Genome Analysis Report

Disclaimer

The service provided by Khon Kaen University National Phenome Institute (KKUNPhI) are currently for research use only. As they have not been submitted for review to any regulatory agency/notified body for clinical diagnostics, caution must be excercisrd when describing the application of KKUNPhI service in the clinical research field.

* This report is for research use only

Overview

This report presents the findings of whole genome sequencing analysis. It provides detailed associations between genetic variants and various diseases and traits, highlighting the mapped genes, relevant SNPs, and associated gene regions.

453,471
Variants have been found in your genome.
SNPs54.88%248,885 Positions
INS28.26%128,169 Positions
COMPLEX15.89%72,046 Positions
DEL0.96%4,371 Positions

Total 124 Disease/Trait

Other trait: 74.19 %

Cardiovascular disease: 9.68 %

Other disease: 4.84 %

Immune system disease: 4.84 %

Nervous system disease: 2.42 %

Digestive system disease: 1.61 %

Cancer: 0.81 %

Metabolic disease: 0.81 %

Mental disorder: 0.81 %

Termonology

Gene: Gene is a segment of DNA that serves as a blueprint for producing proteins or functional RNA molecules, which carry out vital biological functions in the body. Genes are the basic units of heredity, passed from parents to offspring, and play a crucial role in determining traits and regulating cellular processes.

Single Nucleotide Polymorphism (SNP): A SNP is a variation in a single nucleotide in the DNA sequence that occurs at a specific position in the genome and is common in a population. SNPs can influence traits, disease susceptibility, and drug response.

Insertion (INS): An insertion is the addition of one or more nucleotides to a DNA sequence.

Deletion (DEL): A deletion is the removal of one or more nucleotides from a DNA sequence.

Complex (COMPLEX): A complex variant is a combination of insertions, deletions, and substitutions

Alleles: An allele is a variant form of a gene found at a specific position (locus) on a chromosome. Each allele is inherited, one from each parent.

Mapped Gene: Genes mapped near or overlapping the SNPs.

Chromosomal region: The genomic region associated with the trait or disease.

Risk Allele Frequency (%): The frequency of the risk allele in the population.


Metabolite levels (3-aminoisobutyrate; __Aminoisobutyrate)

Quantification of 3-aminoisobutyrate in a sample.

Region: 5p13.2

SNPs ID: rs180749

Mapped Gene: AGXT2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 96.05 (%)

Platelet forward scatter distribution width

A measurement quantifying some platelet

Region: 19q13.42

SNPs ID: rs1654447

Mapped Gene: RDH13

Group of disease/trait: Other trait

020406080100Your Genetic Risk 84.23 (%)

2-aminoisobutyric acid levels in chronic kidney disease

Quantification of the amount of 2-aminoisobutyric acid in a sample.

Region: 5p13.2

SNPs ID: rs180749

Mapped Gene: AGXT2

Group of disease/trait: Other disease

020406080100Your Genetic Risk 83.0 (%)

Post bronchodilator FEV1/FVC ratio

Description not found

Region: 15q25.1

SNPs ID: rs2568497

Mapped Gene: CRABP1 - IREB2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 81.2 (%)

Post bronchodilator FEV1

Description not found

Region: 15q25.1

SNPs ID: rs2568497

Mapped Gene: CRABP1 - IREB2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 81.1 (%)

Educational attainment

A measure of academic performance through educational benchmarks such as national exams and curriculum assessments.

Region: 2p25.1

SNPs ID: rs1861499

Mapped Gene: LINC00299

Group of disease/trait: Other trait

020406080100Your Genetic Risk 78.58 (%)

Atrial fibrillation (PheCode 427.21)

A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent p waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (cdisc)

Region: 6p22.3

SNPs ID: rs34969716

Mapped Gene: KDM1B

Group of disease/trait: Other trait

020406080100Your Genetic Risk 74.82 (%)

Albumin (mean, inv-norm transformed)

An albumin measurement is a quantification of albumin in blood. serum albumin, the main protein of plasma, has a good binding capacity for water, ca2+, na+, k+, fatty acids, hormones, bilirubin and drugs. its main function is the regulation of the colloidal osmotic pressure of blood. major zinc transporter in plasma, typically binds about 80% of all plasma zinc. low levels of albumin in the blood may indicate liver disease.

Region: 1p35.1

SNPs ID: rs16835227

Mapped Gene: RNF19B - AK2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 74.81 (%)

Albumin (minimum, inv-norm transformed)

An albumin measurement is a quantification of albumin in blood. serum albumin, the main protein of plasma, has a good binding capacity for water, ca2+, na+, k+, fatty acids, hormones, bilirubin and drugs. its main function is the regulation of the colloidal osmotic pressure of blood. major zinc transporter in plasma, typically binds about 80% of all plasma zinc. low levels of albumin in the blood may indicate liver disease.

Region: 1p35.1

SNPs ID: rs16835227

Mapped Gene: RNF19B - AK2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 74.81 (%)

Atrial fibrillation and flutter (PheCode 427.2)

A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent p waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (cdisc)

Region: 6p22.3

SNPs ID: rs34969716

Mapped Gene: KDM1B

Group of disease/trait: Other trait

020406080100Your Genetic Risk 74.81 (%)

Smoking initiation

initation of the habit of smoking, the inhaling and exhaling of tobacco smoke.

Region: 11p15.1

SNPs ID: rs7122118

Mapped Gene: TPH1

Group of disease/trait: Other trait

020406080100Your Genetic Risk 74.8 (%)

25-hydroxyvitamin D levels (skin colour stratified)

A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH). 25-hydroxyvitamin D or calcifediol, a prehormone precursor of vitamin D, is widely used as a proxy to quanitfy vitamin D levels in blood.

Region: 7p15.3

SNPs ID: rs10085881

Mapped Gene: SP4 - DNAH11

Group of disease/trait: Other trait

020406080100Your Genetic Risk 72.0 (%)

Serum 25-Hydroxyvitamin D levels (conditioned on BMI)

A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH). 25-hydroxyvitamin D or calcifediol, a prehormone precursor of vitamin D, is widely used as a proxy to quanitfy vitamin D levels in blood.

Region: 7p15.3

SNPs ID: rs10085881

Mapped Gene: SP4 - DNAH11

Group of disease/trait: Other trait

020406080100Your Genetic Risk 71.78 (%)

Albumin (maximum, inv-norm transformed)

An albumin measurement is a quantification of albumin in blood. serum albumin, the main protein of plasma, has a good binding capacity for water, ca2+, na+, k+, fatty acids, hormones, bilirubin and drugs. its main function is the regulation of the colloidal osmotic pressure of blood. major zinc transporter in plasma, typically binds about 80% of all plasma zinc. low levels of albumin in the blood may indicate liver disease.

Region: 1p35.1

SNPs ID: rs150944423

Mapped Gene: RNF19B - AK2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 71.38 (%)

Phospholipids to total lipids ratio in medium HDL

The measurement of HDL cholesterol in blood used as a risk indicator for heart disease.

Region: 6p21.31

SNPs ID: rs2744973

Mapped Gene: ILRUN

Group of disease/trait: Other trait

020406080100Your Genetic Risk 69.32 (%)

Phospholipids to total lipids ratio in large LDL

Quantification of the ratio of phospholipids to total lipids in a sample.

Region: 11q12.2

SNPs ID: rs174566

Mapped Gene: FADS1, FADS2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 69.32 (%)

Free cholesterol to total lipids ratio in medium HDL

The measurement of HDL cholesterol in blood used as a risk indicator for heart disease.

Region: 11q12.2

SNPs ID: rs174566

Mapped Gene: FADS1, FADS2

Group of disease/trait: Cardiovascular disease

020406080100Your Genetic Risk 69.32 (%)

White blood cell count

The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter.

Region: 6q23.3

SNPs ID: rs610604

Mapped Gene: TNFAIP3

Group of disease/trait: Other trait

020406080100Your Genetic Risk 67.44 (%)

Immature platelet count

The number of immature platelets in a specified volume of blood.

Region: 6p22.2

SNPs ID: rs2281073

Mapped Gene: CARMIL1 - SCGN

Group of disease/trait: Other trait

020406080100Your Genetic Risk 67.26 (%)

Sodium-coupled monocarboxylate transporter 1 levels

Quantification of sodium-coupled monocarboxylate transporter 1 in a sample.

Region: 11q12.2

SNPs ID: rs174566

Mapped Gene: FADS1, FADS2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 66.0 (%)

Hand grip strength

Quantification of the force applied by the hand to pull on or suspend from objects

Region: 17q21.32

SNPs ID: rs2288278

Mapped Gene: HOXB3, HOXB-AS3

Group of disease/trait: Other trait

020406080100Your Genetic Risk 65.8 (%)

Free cholesterol levels in HDL

The measurement of HDL cholesterol in blood used as a risk indicator for heart disease.

Region: 11q12.2

SNPs ID: rs174566

Mapped Gene: FADS1, FADS2

Group of disease/trait: Cardiovascular disease

020406080100Your Genetic Risk 65.19 (%)

Apolipoprotein A1 levels

Is a quantification of apolipoprotein A 1 in a sample. It is encoded in humans by the APOA1 gene and is the major protein component of high density lipoprotein (HDL) in plasma. Apolipoprotein A 1 relates to lower observational risk of coronary artery disease.

Region: 11q12.2

SNPs ID: rs174566

Mapped Gene: FADS1, FADS2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 64.98 (%)

Asthma

A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.

Region: 11q12.2

SNPs ID: rs174566

Mapped Gene: FADS1, FADS2

Group of disease/trait: Immune system disease

020406080100Your Genetic Risk 64.9 (%)

Estimated glomerular filtration rate (creatinine)

measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test

Region: 19p13.11

SNPs ID: rs1469024

Mapped Gene: IQCN

Group of disease/trait: Other trait

020406080100Your Genetic Risk 64.79 (%)

Triglycerides to total lipids ratio in medium VLDL

quantification of the amount of very low density lipoprotein cholesterol in a sample

Region: 11q12.2

SNPs ID: rs174566

Mapped Gene: FADS1, FADS2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 64.49 (%)

Free cholesterol to total lipids ratio in medium LDL

Quantification of the ratio of free cholesterol to total lipids in a sample.

Region: 11q12.2

SNPs ID: rs174566

Mapped Gene: FADS1, FADS2

Group of disease/trait: Cardiovascular disease

020406080100Your Genetic Risk 64.49 (%)

Triglycerides to total lipids ratio in IDL

Quantification of the amount of intermediate density lipoprotein in a sample.

Region: 11q12.2

SNPs ID: rs174566

Mapped Gene: FADS1, FADS2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 64.48 (%)

Phospholipids to total lipids ratio in IDL

Quantification of the amount of intermediate density lipoprotein in a sample.

Region: 11q12.2

SNPs ID: rs174566

Mapped Gene: FADS1, FADS2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 64.39 (%)

Concentration of very small VLDL particles

quantification of the amount of very low density lipoprotein cholesterol in a sample

Region: 11q12.2

SNPs ID: rs174566

Mapped Gene: FADS1, FADS2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 64.35 (%)

Remnant cholesterol (non-HDL, non-LDL -cholesterol)

Measurement of remnant cholesterol (remnant lipoprotein), which is an atherogenic lipoprotein composed primarily of very low-density lipoprotein (VLDL) and intermediate-density lipoprotein (IDL).

Region: 11q12.2

SNPs ID: rs174566

Mapped Gene: FADS1, FADS2

Group of disease/trait: Cardiovascular disease

020406080100Your Genetic Risk 64.34 (%)

Triglycerides in very large HDL

Quantification of triglycerides in very large hdl.

Region: 11q12.2

SNPs ID: rs174566

Mapped Gene: FADS1, FADS2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 64.33 (%)

Hypopotassemia (PheCode 276.14)

Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia.

Region: 5q23.3

SNPs ID: rs7726795

Mapped Gene: FBN2

Group of disease/trait: Other trait

020406080100Your Genetic Risk 63.44 (%)

Plasma 2,6-dihydroxybenzoic acid levels in chronic kidney disease

Quantification of the amount of 2,6-dihydroxybenzoic acid in a sample.

Region: 3q29

SNPs ID: rs2342307

Mapped Gene: PCYT1A, SLC51A

Group of disease/trait: Other disease

020406080100Your Genetic Risk 63.0 (%)

Metabolite levels (leucylserine)

Ontology not covered

Region: 4q35.2

SNPs ID: rs4253281

Mapped Gene: KLKB1

Group of disease/trait: Other trait

020406080100Your Genetic Risk 62.15 (%)

Myeloproliferative neoplasms

A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. it is primarily a neoplasm of adults. (who 2008)

Region: 3q21.3

SNPs ID: rs9864772

Mapped Gene: LINC01565 - RPN1

Group of disease/trait: Other trait

020406080100Your Genetic Risk 60.75 (%)

Dementia with Lewy bodies

A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.

Region: 16p11.2

SNPs ID: rs897984

Mapped Gene: MIR4519, BCL7C, MIR762HG

Group of disease/trait: Nervous system disease

020406080100Your Genetic Risk 60.0 (%)

Trauma exposure

Quantification of some aspect of trauma exposure.

Region: 19q13.32

SNPs ID: rs770444611

Mapped Gene: CCDC8 - PNMA8C

Group of disease/trait: Other trait

020406080100Your Genetic Risk 59.0 (%)

Alzheimer's disease with no specific cognitive domain impairment

A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.

Region: 2q31.1

SNPs ID: rs4972634

Mapped Gene: LINC01960 - RPSAP24

Group of disease/trait: Nervous system disease

020406080100Your Genetic Risk 59.0 (%)

Body size at age 10

Description of an individual's body size at age 10 compared to average, as reported by the individual.

Region: 8q21.13

SNPs ID: rs35918296

Mapped Gene: HNF4G - RNU2-54P

Group of disease/trait: Other trait

020406080100Your Genetic Risk 58.62 (%)

Neuritic plaque

Quantification of neuritic (senile) plaques in the brain, senile plaques (also known as neuritic plaques, senile druse and braindruse) are extracellular deposits of amyloid beta in the grey matter of the brain.[1][2] degenerative neural structures and an abundance of microglia and astrocytes can be associated with senile plaque deposits. these deposits can also be a byproduct of senescence (ageing). however, large numbers of senile plaques and neurofibrillary tangles are characteristic features of alzheimer's disease. abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles.[3] the plaques are variable in shape and size, but are on average 50 µm in size.[4] in alzheimer's disease they are primarily composed of amyloid beta peptides.

Region: 12p13.31

SNPs ID: rs7294478

Mapped Gene: C1RL-AS1

Group of disease/trait: Other trait

020406080100Your Genetic Risk 58.47 (%)

Metabolite levels (arginine)

Quanitification of argininine levels in a sample.

Region: 4q35.2

SNPs ID: rs4253281

Mapped Gene: KLKB1

Group of disease/trait: Other trait

020406080100Your Genetic Risk 58.05 (%)